Understanding photodermatoses associated with defective DNA repair
Abstract
Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair-deficiency photodermatoses.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Conditions with mutations in NER pathways include xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS).
“These include the conditions with mutations in NER pathways (presented in Table 3) such as xeroderma pigmentosum (XP) [149,150], Cockayne syndrome (CS) [151,152], trichothiodystrophy (TTD) [153,154,155,156], UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS) [157,158,159].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [157]
Cites
1 retracted
Fousteri, M., Vermeulen, W., van Zeeland, A. A., & Mullenders, L. H. F. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.06.029 · Cited by 387 · see citing works
RetractedKraemer, K. H. (1987) · Archives of Dermatology · doi:10.1001/archderm.123.2.241 · Cited by 1,205 · see citing works
Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,038 · see citing works
Self-citationCockayne syndrome: Review of 140 cases
Nance, M. A., & Berry, S. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420115 · Cited by 806 · see citing works
Kraemer, K. H. (1987) · Archives of Dermatology · doi:10.1001/archderm.1987.01660260111026 · Cited by 800 · see citing works
Shining a light on xeroderma pigmentosum
DiGiovanna, J. J., & Kraemer, K. H. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.426 · Cited by 547 · see citing works
Bradford, P. T., Goldstein, A. M., Tamura, D., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., Imoto, K., Inui, H., Moriwaki, S.-I., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.083022 · Cited by 480 · see citing works
Dwarfism with retinal atrophy and deafness
Cockayne, E. A. (1936) · Archives of Disease in Childhood · doi:10.1136/adc.11.61.1 · Cited by 377 · see citing works
Nuclear and mitochondrial DNA repair: similar pathways?
Larsen, N. B., Rasmussen, M., & Rasmussen, L. J. (2005) · Mitochondrion · doi:10.1016/j.mito.2005.02.002 · Cited by 289 · see citing works
Kleijer, W. J., Laugel, V., Berneburg, M., Nardò, T., Fawcett, H., Gratchev, A. N., Jaspers, N. G. J., Sarasin, A. R., Stefanini, M., & Lehmann, A. R. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.01.014 · Cited by 278 · see citing works
Faghri, S., Tamura, D., Kraemer, K. H., & DiGiovanna, J. J. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058743 · Cited by 264 · see citing works
Cockayne syndrome: The expanding clinical and mutational spectrum
Laugel, V. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.02.006 · Cited by 239 · see citing works
Sarker, A. H., Tsutakawa, S. E., Kostek, S. A., Ng, C., Shin, D. S., Peris, M., Campeau, E., Tainer, J. A., Nogales, E., & Cooper, P. K. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.09.022 · Cited by 224 · see citing works
Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J., Lewin, S. O., Carr, L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.007 · Cited by 212 · see citing works
Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex
Price, V. H. (1980) · Archives of Dermatology · doi:10.1001/archderm.116.12.1375 · Cited by 199 · see citing works
Keriel, A., Stary, A., Sarasin, A., Rochette-Egly, C., & Egly, J.-M. (2002) · Cell · doi:10.1016/s0092-8674(02)00692-x · Cited by 192 · see citing works
Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.110 · Cited by 179 · see citing works
Price, V. H. (1980) · Archives of Dermatology · doi:10.1001/archderm.1980.01640360049017 · Cited by 177 · see citing works
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
Greenhaw, G. A., Hebert, A. A., Duke-Woodside, M. E., Butler, I. J., Hecht, J. T., Cleaver, J. E., Thomas, G. H., & Horton, W. A. (1992) · Europe PMC (PubMed Central) · Cited by 162 · see citing works
Pollitt, R. J., Jenner, F. A., & Davies, M. (1968) · Archives of Disease in Childhood · doi:10.1136/adc.43.228.211 · Cited by 146 · see citing works
Nardò, T., Oneda, R., Spivak, G., Vaz, B., Mortier, L., Thomas, P., Orioli, D., Laugel, V., Stary, A., Hanawalt, P. C., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902113106 · Cited by 140 · see citing works
Self-citation8-Oxoguanine-mediated transcriptional mutagenesis causes Ras activation in mammalian cells
Saxowsky, T. T., Meadows, K. L., Klungland, A., & Doetsch, P. W. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0806464105 · Cited by 129 · see citing works
A comprehensive description of the severity groups in Cockayne syndrome
Natale, V. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33933 · Cited by 125 · see citing works
The CSB Protein Actively Wraps DNA
Beerens, N., Hoeijmakers, J. H. J., Kanaar, R., Vermeulen, W., & Wyman, C. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m409147200 · Cited by 110 · see citing works
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease
Wang, Y., Chakravarty, P., Ranes, M., Kelly, G. P., Brooks, P. J., Neilan, E. G., Stewart, A., Schiavo, G., & Svejstrup, J. Q. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1412569111 · Cited by 109 · see citing works
Meira, L. B., Graham, J. M., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre‐Train, I., & Friedberg, E. C. (2000) · The American Journal of Human Genetics · doi:10.1086/302867 · Cited by 109 · see citing works
Guo, J., Hanawalt, P. C., & Spivak, G. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt524 · Cited by 98 · see citing works
Self-citationNakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, J. R., Puffenberger, E. G., Christiano, A. M., Martinez-Mir, A., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/428141 · Cited by 90 · see citing works
Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J., Martin‐Coignard, D., Drouin‐Garraud, V., Valayannopoulos, V., Sarasin, A. R., & Dollfus, H. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.057141 · Cited by 83 · see citing works
Brooks, P. J. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.018 · Cited by 82 · see citing works
Clinical Guide to Sunscreens and Photoprotection
(2008) · CRC Press eBooks · doi:10.3109/9781420080858 · Cited by 81 · see citing works
Structural and Molecular Hair Abnormalities in Trichothiodystrophy
Liang, C., Morris, A., Schlücker, S., et al. (2006) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700384 · Cited by 78 · see citing works
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients
Tamura, D., DiGiovanna, J. J., Khan, S. G., & Kraemer, K. H. (2014) · Photodermatology Photoimmunology & Photomedicine · doi:10.1111/phpp.12108 · Cited by 73 · see citing works
Itoh, T., Fujiwara, Y., Ono, T., & Yamaizumi, M. (1995) · Europe PMC (PubMed Central) · Cited by 72 · see citing works
Châtre, L., Biard, D. S. F., Sarasin, A. R., & Ricchetti, M. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1422264112 · Cited by 70 · see citing works
New clinico‐genetic classification of trichothiodystrophy
Morice‐Picard, F., Cario, M., Rezvani, H. R., Lacombe, D., Sarasin, A. R., & Taı̈eb, A. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32902 · Cited by 69 · see citing works
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome
Lowry, R. B., MacLean, R. E. G., McLean, D. M., & Tischler, B. (1971) · The Journal of Pediatrics · doi:10.1016/s0022-3476(71)80114-2 · Cited by 68 · see citing works
Cleaver, J. E., Brennan-Minnella, A. M., Swanson, R. A., Fong, K.-W., Chen, J., Chou, K.-M., Chen, Y.-W., Revet, I., & Bezrookove, V. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1414135111 · Cited by 65 · see citing works
Singh, A., Compe, E., May, N. L., & Egly, J. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.012 · Cited by 63 · see citing works
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
Patton, M. A., Giannelli, F., Francis, A. J., Baraitser, M., Harding, B. N., & Williams, A. J. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.3.154 · Cited by 50 · see citing works
Vessoni, A. T., Herai, R. H., Karpiak, J. V., Leal, A. M. D. S., Trujillo, C. A., Quinet, A., Agnez‐Lima, L. F., Menck, C. F. M., & Muotri, A. R. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw008 · Cited by 47 · see citing works
An analysis of deformation during a normal morphogenic event.
Peña, S. S., Evans, J. P., & Hunter, A. G. (1978) · PubMed · Cited by 46 · see citing works
Transcription coupled repair at the interface between transcription elongation and mRNP biogenesis
Gaillard, H., & Aguilera, A. (2012) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2012.09.008 · Cited by 44 · see citing works
Cerebro-Oculo-Facio-Skeletal Syndrome
Suzumura, H., & Arisaka, O. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6448-9_19 · Cited by 37 · see citing works
Protection from visible light by commonly used textiles is not predicted by ultraviolet protection
den Keybus, C. V., Laperre, J., & Roelandts, R. (2005) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2005.08.059 · Cited by 31 · see citing works
Sunscreen Use in Photodermatoses
DeLeo, V. A. (2006) · Dermatologic Clinics · doi:10.1016/j.det.2005.09.004 · Cited by 30 · see citing works
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome
Linna, S., Finni, K., Simil�, S., et al. (1982) · Pediatric Radiology · doi:10.1007/bf01221707 · Cited by 28 · see citing works
Frouin, É., Laugel, V., Durand, M., et al. (2013) · JAMA Dermatology · doi:10.1001/jamadermatol.2013.6683 · Cited by 28 · see citing works
Kuwabara, A., Tsugawa, N., Tanaka, K., Uejima, Y., Ogawa, J., Otao, N., Yamada, N., Masaki, T., Nishigori, C., Moriwaki, S., et al. (2015) · European Journal of Clinical Nutrition · doi:10.1038/ejcn.2015.1 · Cited by 26 · see citing works
Celiac disease: effects on bone mineralization
da Silva, G. A. P. (2003) · Jornal de Pediatria · doi:10.2223/jped.1040 · Cited by 22 · see citing works
Sunscreens in the management of photodermatoses.
de Medeiros, V. L. S., & Lim, H. W. (2010) · PubMed · Cited by 17 · see citing works
Self-citationHereditary Disorders with Defective Repair of UV-Induced DNA Damage
Moriwaki, S. (2013) · Japanese Clinical Medicine · doi:10.4137/jcm.s10730 · Cited by 14 · see citing works
Sunscreens and Photodermatoses
Draelos, H. W. L. Z. D. (2008) · CRC Press eBooks · doi:10.3109/9781420080858-9 · Cited by 4 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies
Kciuk, M., Marciniak, B., Mojzych, M., & Kontek, R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197264 · Cited by 168 · see citing works
- Authors
- Yew, Y. W., Giordano, C. N., Spivak, G., & Lim, H. W.
- Affiliations
- National Skin Centre (SG)
- Henry Ford Hospital (US)
- Stanford University (US)
- Corresponding author
- Lim, Henry W.
- Venue
- Journal of the American Academy of Dermatology
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 75
- Issue
- 5
- Pages
- 873-882
- ISSN
- 0190-9622 (ISSN-L)
- OpenAlex
- W2533598019
- Cited by
- 22
- References
- 53
- Citations by year
- 2025: 3 · 2024: 3 · 2023: 1 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 5
- FWCI
- 0.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of the American Academy of Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- photodermatosis, nucleotide excision repair, Cockayne syndrome, trichothiodystrophy, photosensitivity, hereditary skin disease, genetic mutations, photoprotection, neurological involvement, growth and development
- MeSH terms
- Cockayne Syndrome, Humans, Phenotype, Photosensitivity Disorders, Radiation Tolerance, RNA Polymerase II, Transcription, Genetic, Ultraviolet Rays, Xeroderma Pigmentosum, Mutagenesis, DNA Adducts, Disease Management, Genetic Predisposition to Disease, DNA Repair-Deficiency Disorders, Trichothiodystrophy Syndromes
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review